NIH Updates Down Syndrome Research Plan

New Directions for Research to Improve the Health of Those with Down Syndrome

Boy with Down Syndrome playing basketball

The NIH recently released Down Syndrome Directions: The National Institutes of Health Research Plan on Down Syndrome (PDF - 772 KB), an updated strategy to advance research related to Down syndrome.

The Plan was developed by the NIH Down Syndrome Working Group with input from members of the public-private Down Syndrome Consortium, external researchers, health care providers, and self advocates and families. 

The first NIH Down Syndrome Research Plan was released in 2007. Since then, the NIH has supported the development of new research resources, including DS-Connect®: The Down Syndrome Registry, and promoted increased collaboration among researchers, advocates, and families.

The revised Plan encourages continued collaborations to help meet its new research goals and objectives.

Highlights of the Revised NIH Research Plan on Down Syndrome

Features of the updated Plan include:

  • A new focus on Down syndrome and aging: The life expectancy for people with Down syndrome—50 years on average, with many living much longer—has increased more than fourfold since 1960.1 Meanwhile, scientific advances have revealed links between Down syndrome and Alzheimer’s disease that have increased our understanding of both conditions. This research has identified promising new compounds that might be effective treatments for Alzheimer’s disease and may be ready for human testing in the near future.
  • A call for more research on other health conditions associated with Down syndrome: These include congenital heart disease, hearing and vision problems, celiac disease and other gastrointestinal problems, thyroid dysfunction, and immune disorders. The Plan encourages researchers who study these conditions to address health disparities as well.
  • A detailed listing of recent research accomplishments: Since the release of the first Plan, scientists have made progress in improving our understanding of Down syndrome. The revised Plan includes an extensive bibliography (nearly 350 papers) of NIH-supported publications since 2007, grouped by research goals.

Important Scientific Advances Since the First NIH Down Syndrome Research Plan

As called for in the original Research Plan, NIH Institutes and Centers teamed up to fund new Down syndrome research projects, which have yielded a variety of advances. For example, scientists working within the framework of the Plan have been able to:

  • Better define the roles played by specific individual genes in the various symptoms that make up Down syndrome.
  • Identify the genetic events that increase the likelihood of a child with Down syndrome developing leukemia.
  • Evaluate interventions to improve physical and emotional health of people with Down syndrome.
  • Better define aging effects common to people with Down syndrome.
  • Study biomarkers that may help predict the risk for dementia in people with Down syndrome.
  • Develop new and better mouse models to study Down syndrome.
  • Develop new tests to measure Down syndrome’s effects on the brain.

The NICHD has supported and conducted research on Down syndrome and other intellectual and developmental disabilities since it was established. With the publication of the updated Research Plan, the NIH and NICHD aim to sustain the recent momentum in Down syndrome research to help further improve the health and well-being of individuals and their families.

More NICHD Information on Down Syndrome

Originally Posted: December 8, 2014


All NICHD Spotlights

  1. Centers for Disease Control and Prevention. (2014). Birth Defects: Data and Statistics. Available at

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